Cortical microarchitecture changes in genetic epilepsy

VC Wimmer; MYS Li; SF Berkovic; S Petrou

Journal article

Cortical microarchitecture changes in genetic epilepsy

VC Wimmer, MYS Li, SF Berkovic, S Petrou

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015

DOI: 10.1212/WNL.0000000000001415

Abstract

Objective: The human GABAAg2(R43Q) mutation is associated with genetic epilepsy. Because of the role of g-aminobutyric acid (GABA) in brain development, we asked whether this epilepsy mutation might affect excitability by changing cortical cytoarchitecture. Methods: We used a mouse model harboring a heterozygous R43Q missense mutation in the GABAA receptor subunit g2, as identified in a family with absence epilepsy and febrile seizures. Three-dimensional quantification of immunostained neurons (NeuN), inhibitory neurons (GABA), and inhibitory neuron subpopulations (calretinin, parvalbumin, and calbindin) was performed in fiducial somatosensory cortical columns of seizure-naive GABAAg2(R43Q) ..

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University of Melbourne Researchers

Verena Wimmer Author

Melody Li Author

Sam Berkovic Author

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Grants

Awarded by National Health and Medical Research Council Australia (NHMRC)

Awarded by NMHRC

Funding Acknowledgements

This work was supported by the National Health and Medical Research Council Australia (NHMRC, grants 400121 and 1030016) and NMHRC fellowship 1005050 to S.P. The Florey Institutes of Neuroscience and Mental Health are supported by Victorian State Government infrastructure funds.